ESPE Abstracts

Background: Childhood craniopharyngiomas are known to be associated with an increased risk of excessive weight gain and hypothalamic obesity. Atypical clinical manifestations include the development of a diencephalic syndrome (DS) with a failure to thrive or weight loss.Objective and hypotheses: In a retrospective study we analyzed 21 of 485 childhood craniopharyngioma patients (4.3%) who presented with a low weight (<−2 BMI SDS) at time of dia...

Background: GH deficiency (GHD) occurs in one in 4000–one in 10 000 children, but can also be diagnosed in adults.1 GHD therapy typically requires injections over a period of years.2 Adherence to long-term GHT presents a challenge.Objective and hypotheses: This study describes the rates of adherence to GHT among patients with GHD.Method: Members who were continuously enrolled 6 months pre- and 12 months p...

Background: The steroidogenic acute regulatory protein (StAR) has been shown to be essential for steroidogenesis by mediating cholesterol transfer into mitochondria. Inactivating StAR mutations cause the typical clinical picture of congenital lipoid adrenal hyperplasia.Objective and hypotheses: We aimed to identify causative mutations in cases presenting with adrenal failure during early infancy.Method: Consecutive cases with adren...

Background: Hypophosphatasia (HPP) is the rare inherited metabolic disorder resulting from loss-of-function mutation(s) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. TNSALP deficiency can cause a spectrum of complications in children including premature deciduous tooth loss, rickets, poor growth, and compromised physical function. We previously reported that children, 5–12 years old, with HPP and treated with asfotase alfa, a recombinant bone-targeted huma...

Introduction: Anti-obesity drugs with increased efficacy and safety are urgently being sought. Peptide YY3–36 (PYY3–36) is an attractive drug target due to its anorectic effect and decreased circulation concentration, without drug resistance, in obese individuals. Its short half-life and required method of delivery are limiting factors in its clinical application. Transport and uptake mechanisms, including blood-brain barrier passage, of vitamin B12 (B12) is highly e...

Background: The commonest cause of 46, XX disorders of sex development (DSD) is congenital adrenal hyperplasia (CAH). We report two female virilised siblings with uncontrolled CAH who were reared as boys since birth. Different team members were involved in management. We discuss here gender reassignment and the psychosocial implications from Islamic perspectives.Case reports: An eight and 11 years old severely virilised CAH Yemeni girls were raised as bo...

Introduction: The relationship between sports intensity and growth has become a concern in teenagers. Changes in the GH/IGF1 axis have been studied as biomarkers for training intensity in adolescents; however, reports on the effects of physical effort on GH and IGF1 levels are discordant and studies on GH and IGF1 responses in combat sports are scarce.Aim: To investigate the effects of a Jiu-Jitsu training session on serum IGF1 and IGFBP3 concentrations....

Introduction: The COVID-19 pandemic led to regional lockdowns and restrictions associated with changes in lifestyle and quality of life (QoL) thus potentially burdening metabolic control in Diabetes Mellitus (DM). We examined whether the stages of restrictions lead to changes in QoL and metabolic control in children with DM.Methods: Starting in April 2020, this monocentric prospective longitudinal cohort study included c...

Background: Data on female fertility, pregnancy, and outcome of offspring after childhood-onset craniopharyngioma (CP) are rare.Study design: Observational study on pregnancy rate and outcome of offspring after CP in postpubertal, female patients recruited in KRANIOPHARYNGEOM 2000/2007 since 2000.Results: 451 CP patients (223 female) have been recruited. 269 CP patients (133 female) were postpubert...

As marijuana use during adolescence has been increasing, the need to understand the effects of its long-term use becomes crucial. Previous research suggested that marijuana consumption during adolescence increases the risk of developing mental illnesses, such as schizophrenia, depression, and anxiety. Ghrelin is a peptide produced primarily in the gut and is important for feeding behavior. Ghrelin and its receptor, the growth hormone secretagogue receptor (GHSR) play important...